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5 in total

1. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

Authors: Debra A Thompson; Christina L McHenry; Yun Li; Julia E Richards; Mohammad I Othman; Eberhard Schwinger; Douglas Vollrath; Samuel G Jacobson; Andreas Gal
Journal: Am J Hum Genet Date: 2001-11-27 Impact factor: 11.025

Review 2. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.

Authors: H Carmichael; Y Shen; T T Nguyen; J N Hirschhorn; A Dauber
Journal: Clin Genet Date: 2012-12-20 Impact factor: 4.438

Review 3. Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.

Authors: D Kotzot
Journal: J Med Genet Date: 2001-08 Impact factor: 6.318

4. Obesity and developmental delay in a patient with uniparental disomy of chromosome 2.

Authors: T Yu; J Li; N Li; R Liu; Y Ding; G Chang; Y Chen; Y Shen; X Wang; J Wang
Journal: Int J Obes (Lond) Date: 2016-09-22 Impact factor: 5.095

5. A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.

Authors: Olga Shchagina; Ludmila Bessonova; Igor Bychkov; Tatiana Beskorovainaya; Aleksander Poliakov
Journal: Genes (Basel) Date: 2020-07-19 Impact factor: 4.096

5 in total